regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNKSR1_chr1_26172491_26194884 | 26182476 | C | T | splice_region_variant others(1): Show |
LOW | NA18968.hp2 NA18991.hp1 NA19057.hp1 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0012a0003c0003t0001g0124 | 6 | 372 | 0.0161 | 0 | c.520 others(5): Show |
CNKSR1 | ENSG00000142675.18 | transcript | ENST00000361530.11 | protein_coding | 5/20 | chr1 | TogoVar | ||||||
CNKSR1_chr1_26172491_26194884 | 26184147 | A | T | splice_region_variant others(1): Show |
LOW | NA18991.hp2 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0053 | 1 | 372 | 0.0027 | 0 | c.926 others(5): Show |
CNKSR1 | ENSG00000142675.18 | transcript | ENST00000361530.11 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
CNKSR1_chr1_26172491_26194884 | 26189882 | G | A | splice_region_variant | LOW | HG01069.hp1 HG01071.hp2 HG02486.hp1 others(6): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0014a0005c0007t0003g0040a0005c0007t0003g0041others(1): Show | 9 | 372 | 0.0242 | 0 | c.*33 others(4): Show |
CNKSR1 | ENSG00000142675.18 | transcript | ENST00000361530.11 | protein_coding | 21/21 | chr1 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154410432 | C | T | missense_variant others(1): Show |
MODERATE | HG01346.hp2 | a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0159 | 1 | 342 | 0.0029 | 0 | c.128 others(4): Show |
p.Gly others(6): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 12/13 | 1851/21078 | 1280/1668 | 427/555 | chr6 | TogoVar | ||
CNKSR3_chr6_154382515_154515685 | 154433513 | G | A | splice_region_variant others(1): Show |
LOW | HG02683.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0024 | a0001c0001t0004g0262a0001c0001t0024g0013 | 2 | 342 | 0.0059 | 0 | c.508 others(5): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
CNN1_chr19_11533851_11555323 | 11547799 | G | A | splice_region_variant others(1): Show |
LOW | NA18990.hp1 NA18999.hp1 NA19002.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0007a0001c0005t0001g0011 | 3 | 392 | 0.0077 | 0 | c.393 others(3): Show |
p.Ala others(6): Show |
CNN1 | ENSG00000130176.8 | transcript | ENST00000252456.7 | protein_coding | 5/7 | 470/1499 | 393/894 | 131/297 | chr19 | TogoVar | ||
CNN1_chr19_11533851_11555323 | 11549543 | T | G | splice_region_variant others(1): Show |
LOW | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 392 | 0.0026 | 0 | c.649 others(5): Show |
CNN1 | ENSG00000130176.8 | transcript | ENST00000252456.7 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
CNN2_chr19_1021608_1044065 | 1032703 | C | T | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(100): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0035a0001c0001t0001g0037a0001c0001t0001g0050others(82): Show | 103 | 390 | 0.2641 | 0 | c.390 others(5): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
CNN3_chr1_94891957_94932110 | 94902113 | G | A | splice_region_variant others(1): Show |
LOW | HG01123.hp1 HG01169.hp2 HG01175.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011a0001c0001t0030others(1): Show | a0001c0001t0007g0007a0001c0001t0007g0015a0001c0001t0007g0054others(18): Show | 31 | 426 | 0.0728 | 0 | c.384 others(5): Show |
CNN3 | ENSG00000117519.16 | transcript | ENST00000370206.9 | protein_coding | 4/6 | chr1 | TogoVar | ||||||
CNNM1_chr10_99324356_99399330 | 99364400 | CT | C | splice_region_variant others(1): Show |
LOW | HG00423.hp2 HG02040.hp1 HG02129.hp1 others(40): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0024a0001c0001t0001g0031a0001c0001t0001g0172others(40): Show | 43 | 320 | 0.1344 | -1 | c.202 others(7): Show |
CNNM1 | ENSG00000119946.12 | transcript | ENST00000356713.5 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CNNM1_chr10_99324356_99399330 | 99388304 | C | G | splice_region_variant others(1): Show |
LOW | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 | 1 | 320 | 0.0031 | 0 | c.267 others(6): Show |
CNNM1 | ENSG00000119946.12 | transcript | ENST00000356713.5 | protein_coding | 9/10 | chr10 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 103049701 | C | T | splice_region_variant others(1): Show |
LOW | HG02280.hp2 HG02717.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011 | a0001c0001t0005g0008a0001c0001t0011g0009a0001c0001t0011g0013 | 3 | 270 | 0.0111 | 0 | c.162 others(6): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | chr10 | TogoVar | ||||||
CNNM4_chr2_96755902_96816874 | 96799647 | C | T | splice_region_variant others(1): Show |
LOW | HG01081.hp1 HG02300.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0250a0001c0003t0001g0265 | 2 | 270 | 0.0074 | 0 | c.194 others(4): Show |
p.Ser others(6): Show |
CNNM4 | ENSG00000158158.12 | transcript | ENST00000377075.3 | protein_coding | 5/7 | 2045/4783 | 1947/2328 | 649/775 | chr2 | TogoVar | ||
CNOT10_chr3_32680188_32778875 | 32764815 | T | A | splice_region_variant others(1): Show |
LOW | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0345a0001c0001t0001g0347a0001c0001t0001g0348others(5): Show | 8 | 354 | 0.0226 | 0 | c.200 others(6): Show |
CNOT10 | ENSG00000182973.20 | transcript | ENST00000328834.10 | protein_coding | 17/18 | chr3 | TogoVar | ||||||
CNOT1_chr16_58514951_58634826 | 58532400 | G | A | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00323.hp2 HG00423.hp2 others(85): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0007a0001c0014others(4): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0010others(6): Show | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0004others(85): Show | 88 | 308 | 0.2857 | 0 | c.589 others(6): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 40/48 | chr16 | TogoVar | ||||||
CNOT1_chr16_58514951_58634826 | 58553775 | C | T | splice_region_variant others(1): Show |
LOW | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 308 | 0.0033 | 0 | c.297 others(6): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 22/48 | chr16 | TogoVar | ||||||
CNOT1_chr16_58514951_58634826 | 58553868 | C | A | splice_region_variant others(1): Show |
LOW | HG02055.hp2 HG02280.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0181a0001c0006t0002g0182a0001c0006t0002g0183others(3): Show | 6 | 308 | 0.0195 | 0 | c.289 others(6): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 21/48 | chr16 | TogoVar | ||||||
CNOT1_chr16_58514951_58634826 | 58581514 | T | TTCTAAAA others(4): Show |
frameshift_variant others(1): Show |
HIGH | NA18984.hp2 | a0003 | a0003c0020 | a0003c0020t0001 | a0003c0020t0001g0149 | 1 | 308 | 0.0033 | 11 | c.104 others(23): Show |
p.Asn others(5): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 11/49 | 1318/8411 | 1045/7131 | 349/2376 | chr16 | TogoVar | ||
CNOT2_chr12_70238433_70359993 | 70330477 | G | A | splice_region_variant others(1): Show |
LOW | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 280 | 0.0036 | 0 | c.569 others(5): Show |
CNOT2 | ENSG00000111596.14 | transcript | ENST00000229195.8 | protein_coding | 6/15 | chr12 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54142930 | G | A | splice_region_variant | LOW | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0103 | 1 | 223 | 0.0045 | 0 | c.-49 others(3): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 2/18 | chr19 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54143007 | C | T | splice_region_variant others(1): Show |
LOW | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 223 | 0.0045 | 0 | c.25+ others(4): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 2/17 | chr19 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54153709 | C | A | splice_region_variant others(1): Show |
LOW | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 223 | 0.0045 | 0 | c.203 others(6): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 16/17 | chr19 | TogoVar | ||||||
CNOT4_chr7_135356795_135515102 | 135410510 | C | T | splice_region_variant others(1): Show |
LOW | HG00642.hp2 HG01074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155a0001c0001t0001g0166 | 2 | 362 | 0.0055 | 0 | c.821 others(5): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 7/11 | chr7 | TogoVar | ||||||
CNOT6L_chr4_77708387_77824368 | 77773173 | T | A | splice_region_variant others(1): Show |
LOW | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 328 | 0.0031 | 0 | c.315 others(5): Show |
CNOT6L | ENSG00000138767.14 | transcript | ENST00000504123.7 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
CNOT6L_chr4_77708387_77824368 | 77773173 | TA | T | splice_region_variant others(1): Show |
LOW | HG00639.hp1 HG01891.hp2 HG02451.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0116a0001c0001t0001g0151a0001c0001t0001g0162others(16): Show | 19 | 328 | 0.0579 | -1 | c.315 others(6): Show |
CNOT6L | ENSG00000138767.14 | transcript | ENST00000504123.7 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
CNOT6L_chr4_77708387_77824368 | 77776398 | T | TA | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(302): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(301): Show | 305 | 328 | 0.9299 | 1 | c.6-7 others(4): Show |
CNOT6L | ENSG00000138767.14 | transcript | ENST00000504123.7 | protein_coding | 1/11 | chr4 | TogoVar | ||||||
CNOT6_chr5_180489379_180583358 | 180553378 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00738.hp1 HG01358.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0004a0001c0001t0018g0005a0001c0001t0018g0006others(1): Show | 4 | 334 | 0.0120 | 0 | c.300 others(5): Show |
CNOT6 | ENSG00000113300.13 | transcript | ENST00000261951.9 | protein_coding | 3/11 | chr5 | TogoVar | ||||||
CNOT6_chr5_180489379_180583358 | 180564750 | A | G | splice_region_variant others(1): Show |
LOW | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0039 | 1 | 334 | 0.0030 | 0 | c.559 others(5): Show |
CNOT6 | ENSG00000113300.13 | transcript | ENST00000261951.9 | protein_coding | 6/11 | chr5 | TogoVar | ||||||
CNOT6_chr5_180489379_180583358 | 180569111 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(295): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0001a0001c0001t0001g0070a0001c0001t0001g0105others(295): Show | 298 | 334 | 0.8922 | 0 | c.102 others(4): Show |
p.Ser others(6): Show |
CNOT6 | ENSG00000113300.13 | transcript | ENST00000261951.9 | protein_coding | 10/12 | 1416/6219 | 1029/1674 | 343/557 | chr5 | TogoVar | ||
CNPY1_chr7_155496129_155551559 | 155503107 | TG | T | splice_region_variant others(1): Show |
LOW | HG00639.hp2 HG01243.hp1 HG01884.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0012a0001c0001t0014others(6): Show | a0001c0001t0010g0084a0001c0001t0010g0087a0001c0001t0010g0090others(14): Show | 18 | 426 | 0.0423 | -1 | c.401 others(6): Show |
CNPY1 | ENSG00000146910.14 | transcript | ENST00000636446.2 | protein_coding | 4/4 | chr7 | TogoVar | ||||||
CNPY1_chr7_155496129_155551559 | 155503109 | GA | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00323.hp2 HG00597.hp2 others(169): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(55): Show | a0001c0001t0001g0077a0001c0001t0001g0102a0001c0001t0001g0112others(169): Show | 172 | 426 | 0.4038 | -1 | c.401 others(6): Show |
CNPY1 | ENSG00000146910.14 | transcript | ENST00000636446.2 | protein_coding | 4/4 | chr7 | TogoVar | ||||||
CNPY2_chr12_56304844_56320988 | 56311203 | T | C | splice_region_variant others(1): Show |
LOW | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 372 | 0.0027 | 0 | c.408 others(5): Show |
CNPY2 | ENSG00000257727.6 | transcript | ENST00000273308.9 | protein_coding | 4/5 | chr12 | TogoVar | ||||||
CNP_chr17_41961795_41982740 | 41971886 | C | T | splice_region_variant others(1): Show |
LOW | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0027 | 1 | 438 | 0.0023 | 0 | c.677 others(5): Show |
CNP | ENSG00000173786.17 | transcript | ENST00000393892.8 | protein_coding | 2/3 | chr17 | TogoVar | ||||||
CNTFR_chr9_34546433_34594724 | 34552075 | T | C | splice_region_variant others(1): Show |
LOW | NA18973.hp2 NA18993.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0041 | 2 | 402 | 0.0050 | 0 | c.111 others(6): Show |
CNTFR | ENSG00000122756.15 | transcript | ENST00000378980.8 | protein_coding | 9/9 | chr9 | TogoVar | ||||||
CNTF_chr11_58617665_58630733 | 58624028 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00423.hp1 HG00733.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 48 | 410 | 0.1171 | 0 | c.115 others(5): Show |
CNTF | ENSG00000242689.3 | transcript | ENST00000361987.6 | protein_coding | 1/1 | chr11 | TogoVar | ||||||
CNTLN_chr9_17130040_17508923 | 17235644 | AT | A | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(207): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0004a0001c0014others(51): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(82): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0065others(207): Show | 210 | 218 | 0.9633 | -1 | c.535 others(6): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTLN_chr9_17130040_17508923 | 17273733 | A | G | missense_variant others(1): Show |
MODERATE | HG00544.hp2 HG00597.hp1 HG00597.hp2 others(69): Show |
a0003a0004a0006others(8): Show | a0003c0002a0003c0052a0004c0003others(12): Show | a0003c0002t0001a0003c0002t0002a0003c0002t0016others(24): Show | a0003c0002t0001g0051a0003c0002t0001g0052a0003c0002t0001g0054others(69): Show | 72 | 218 | 0.3303 | 0 | c.850 others(3): Show |
p.Thr others(6): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 6/26 | 876/5518 | 850/4221 | 284/1406 | chr9 | TogoVar | ||
CNTLN_chr9_17130040_17508923 | 17330619 | C | CT | splice_region_variant others(1): Show |
LOW | HG02886.hp2 HG03225.hp2 HG03579.hp1 |
a0002a0022a0025 | a0002c0046a0022c0024a0025c0045 | a0002c0046t0007a0022c0024t0003a0025c0045t0002 | a0002c0046t0007g0216a0022c0024t0003g0024a0025c0045t0002g0046 | 3 | 218 | 0.0138 | 1 | c.134 others(7): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTLN_chr9_17130040_17508923 | 17332601 | C | T | splice_region_variant others(1): Show |
LOW | HG02148.hp2 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0045 | 1 | 218 | 0.0046 | 0 | c.151 others(6): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 9/25 | chr9 | TogoVar | ||||||
CNTLN_chr9_17130040_17508923 | 17486986 | C | T | splice_region_variant others(1): Show |
LOW | HG01069.hp1 HG01070.hp2 HG01071.hp2 others(45): Show |
a0001a0002a0004others(12): Show | a0001c0001a0001c0004a0001c0027others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(30): Show | a0001c0001t0001g0122a0001c0001t0001g0192a0001c0001t0001g0193others(45): Show | 48 | 218 | 0.2202 | 0 | c.404 others(6): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 24/25 | chr9 | TogoVar | ||||||
CNTN2_chr1_205038212_205083289 | 205058662 | A | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp2 HG01175.hp2 others(17): Show |
a0003a0004a0013 | a0003c0016a0004c0005a0013c0024 | a0003c0016t0002a0003c0016t0004a0004c0005t0005others(4): Show | a0003c0016t0002g0257a0003c0016t0004g0213a0004c0005t0005g0030others(17): Show | 20 | 380 | 0.0526 | 0 | c.486 others(3): Show |
p.Pro others(6): Show |
CNTN2 | ENSG00000184144.12 | transcript | ENST00000331830.7 | protein_coding | 5/23 | 755/7916 | 486/3123 | 162/1040 | chr1 | TogoVar | ||
CNTN2_chr1_205038212_205083289 | 205066599 | A | G | missense_variant others(1): Show |
MODERATE | HG00735.hp1 HG01167.hp1 HG01169.hp1 |
a0006 | a0006c0011 | a0006c0011t0015 | a0006c0011t0015g0169a0006c0011t0015g0170a0006c0011t0015g0171 | 3 | 380 | 0.0079 | 0 | c.197 others(4): Show |
p.Asn others(6): Show |
CNTN2 | ENSG00000184144.12 | transcript | ENST00000331830.7 | protein_coding | 15/23 | 2244/7916 | 1975/3123 | 659/1040 | chr1 | TogoVar | ||
CNTN3_chr3_74257568_74619659 | 74285307 | G | A | missense_variant others(1): Show |
MODERATE | NA20752.hp1 | a0011 | a0011c0020 | a0011c0020t0003 | a0011c0020t0003g0026 | 1 | 174 | 0.0058 | 0 | c.270 others(4): Show |
p.Thr others(6): Show |
CNTN3 | ENSG00000113805.9 | transcript | ENST00000263665.7 | protein_coding | 20/23 | 3051/5269 | 2702/3087 | 901/1028 | chr3 | TogoVar | ||
CNTN3_chr3_74257568_74619659 | 74301640 | G | A | splice_region_variant others(1): Show |
LOW | HG02559.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0078 | 1 | 174 | 0.0058 | 0 | c.194 others(6): Show |
CNTN3 | ENSG00000113805.9 | transcript | ENST00000263665.7 | protein_coding | 15/22 | chr3 | TogoVar | ||||||
CNTN3_chr3_74257568_74619659 | 74424945 | T | G | splice_region_variant others(1): Show |
LOW | HG03209.hp2 NA20129.hp2 |
a0001a0006 | a0001c0001a0006c0024 | a0001c0001t0008a0006c0024t0002 | a0001c0001t0008g0003a0006c0024t0002g0054 | 2 | 174 | 0.0115 | 0 | c.359 others(5): Show |
CNTN3 | ENSG00000113805.9 | transcript | ENST00000263665.7 | protein_coding | 4/22 | chr3 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 3038927 | G | C | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG01169.hp2 HG01256.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0033a0001c0001t0001g0049a0001c0001t0001g0050others(2): Show | 5 | 116 | 0.0431 | 0 | c.209 others(6): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 18/24 | chr3 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 3040275 | T | C | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00738.hp1 HG01169.hp2 others(21): Show |
a0001a0003a0009 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0033a0001c0001t0001g0049a0001c0001t0001g0050others(21): Show | 24 | 116 | 0.2069 | 0 | c.239 others(6): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 20/24 | chr3 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 3042969 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(25): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0012a0001c0001t0001g0059a0001c0001t0002g0028others(25): Show | 28 | 116 | 0.2414 | 0 | c.251 others(6): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 21/24 | chr3 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1227996 | G | A | splice_region_variant others(1): Show |
LOW | HG00639.hp2 HG01099.hp1 HG01496.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0126a0001c0001t0001g0204a0001c0003t0001g0040others(5): Show | 8 | 232 | 0.0345 | 0 | c.358 others(5): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | chr3 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1327594 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00733.hp2 HG01106.hp1 others(22): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(9): Show | a0001c0001t0001g0024a0001c0001t0001g0071a0001c0001t0001g0198others(22): Show | 25 | 232 | 0.1078 | 0 | c.121 others(6): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 10/22 | chr3 | TogoVar |